Variants
Sign InSign Up

Charcot-Marie-Tooth disease axonal type 2U

Your Results

Sign In

Description

Charcot-Marie-Tooth disease type 2U (CMT2U) is an autosomal dominant neurologic disorder characterized by late-adult onset of distal sensory impairment resulting in distal muscle weakness and atrophy affecting the upper and lower limbs. The disorder is slowly progressive (summary by Gonzalez et al., 2013). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

121

SEE THE VARIANTS →

Genes

External Links

  • OMIM

    616280

  • Orphanet

    397735

  • HPO
  • Medgen

    C4084821

© 2024 Biocodify. All rights reserved.

TwitterTwitter

Product

HomePricingDashboard

Stay up to date

The latest news and updates from Biocodify, sent to your inbox.